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Nephronophthisis-associated ciliopathy with brachydactyly, medullary cysts, and chronic kidney disease.
Kidney Int
October 2024
Paediatric Nephrology Centre, Hong Kong Children's Hospital, Hong Kong SAR; Department of Paediatrics, Chinese University of Hong Kong, Shatin, Hong Kong SAR. Electronic address:
Immunofluorescence analyses of respiratory epithelial cells aid the diagnosis of nephronophthisis.
Pediatr Nephrol
December 2024
Department of General Pediatrics, University Children's Hospital Münster, Albert-Schweitzer-Campus 1, 48149, Münster, Germany.
Background: Nephronophthisis (NPH) comprises a heterogeneous group of inherited renal ciliopathies clinically characterized by progressive kidney failure. So far, definite diagnosis is based on molecular testing only. Here, we studied the feasibility of NPHP1 and NPHP4 immunostaining of nasal epithelial cells to secure and accelerate the diagnosis of NPH.
View Article and Find Full Text PDFPatient-derived and gene-edited pluripotent stem cells lacking recapitulate juvenile nephronophthisis in abnormalities of primary cilia and renal cyst formation.
Front Cell Dev Biol
June 2024
iPS Cell Advanced Characterization and Development Team, Bioresource Research Center, RIKEN, Tsukuba, Ibaraki, Japan.
Juvenile nephronophthisis is an inherited renal ciliopathy with cystic kidney disease, renal fibrosis, and end-stage renal failure in children and young adults. Mutations in the gene encoding nephrocystin-1 protein have been identified as the most frequently responsible gene and cause the formation of cysts in the renal medulla. The molecular pathogenesis of juvenile nephronophthisis remains elusive, and no effective medicines to prevent end-stage renal failure exist even today.
View Article and Find Full Text PDFCase report of a child with nephronophthisis from South Africa.
BMC Pediatr
July 2024
Department of Nephrology, College of Health Sciences, Nelson R Mandela School of Medicine, University of KwaZulu-Natal, Durban, South Africa.
Background: Nephronophthisis (NPHP) is an autosomal recessive disorder with a subset of patients presenting with extrarenal manifestations such as retinal degeneration, cerebella ataxia, liver fibrosis, skeletal abnormalities, cardiac malformations, and lung bronchiectasis. However, the involvement of other organ systems has also been documented. Extrarenal manifestations occur in approximately 10-20% of patients.
View Article and Find Full Text PDFSecukinumab for Severe Hidradenitis Suppurativa in a Patient on Haemodialysis: Efficacy and Safety on 300 mg Every 2 Weeks Administration - A Case Report.
Clin Cosmet Investig Dermatol
May 2024
Section of Dermatology - Department of Clinical Medicine and Surgery, University of Naples Federico II, Napoli, Italy.
Article Synopsis
- A 24-year-old male with a history of juvenile nephronophthisis underwent renal transplantation at 12 but needed dialysis at 18 due to chronic rejection and hypertension.
- He developed severe Hidradenitis Suppurativa (HS), which remained resistant to multiple treatments, including antibiotics and Adalimumab, the latter being stopped due to heart concerns following COVID-19.
- After switching to secukinumab therapy, the patient experienced significant improvements in quality of life and HS symptoms within 5 weeks, with continued benefits noted at the 6-month follow-up, and the treatment was well tolerated with no adverse effects.
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